Associated Papers
Corrigendum to "A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature".
Unknown Author
Case Reports in Genetics, 2025
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.
Puvabanditsin S et al.
Case Reports in Genetics, 2024
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
Taura Y et al.
Human Genome Variation, 2023
Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.
Wang J et al.
Frontiers in Pharmacology, 2021
Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype.
Alayed AM et al.
Clinical Chemistry, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
D'Gama AM et al.
American Journal of Medical Genetics. Part A, 2020
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL et al.
Bmc Medical Genomics, 2016
27435318 (PubMed )
Supplement: 12920_2016_208_MOESM1_ESM.xls › Table_S1
[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
Zhu H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.
Soler-Alfonso C et al.
Pediatric Neurology, 2015
3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.
Çakar NE et al.
Annals of Indian Academy of Neurology, 0
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